Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004963153 | SCV005520312 | uncertain significance | Inborn genetic diseases | 2024-08-01 | criteria provided, single submitter | clinical testing | Unlikely to be causative of Aicardi-Goutieres Syndrome (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Gene |
RCV001759906 | SCV001986210 | uncertain significance | not provided | 2020-10-02 | criteria provided, single submitter | clinical testing | Reported in a European female with systemic lupus erythematosus in published literature (Lee-Kirsch et al., 2007); however, no family history or segregation studies were described; Also reported in a control individual from a cohort of individuals without clinical cerebrovascular disease (McGlasson et al., 2017), although further clinical details and MRI imaging were not available; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 18583934, 24224166, 29387804, 17660818) |
| Labcorp Genetics |
RCV001246935 | SCV001420328 | uncertain significance | Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 2024-11-18 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 158 of the TREX1 protein (p.Ala158Val). This variant is present in population databases (rs762011967, gnomAD 0.009%). This missense change has been observed in individual(s) with systemic lupus erythematosus (PMID: 17660818). ClinVar contains an entry for this variant (Variation ID: 902141). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Illumina Laboratory Services, |
RCV001148458 | SCV001309357 | likely benign | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
| Illumina Laboratory Services, |
RCV001148457 | SCV001309356 | uncertain significance | Aicardi-Goutieres syndrome 1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |